Mbnl1 Gene Summary [Mouse]
Predicted to enable double-stranded RNA binding activity and regulatory region RNA binding activity. Involved in several processes, including embryonic limb morphogenesis; in utero embryonic development; and myoblast differentiation. Acts upstream of or within alternative mRNA splicing, via spliceosome; mRNA splice site recognition; and skeletal muscle tissue development. Located in cytoplasm and nucleus. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb bud; and retina. Used to study myotonic disease and myotonic dystrophy type 1. Orthologous to human MBNL1 (muscleblind like splicing regulator 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mbnl1 |
| Official Name | muscleblind like splicing factor 1 [Source:MGI Symbol;Acc:MGI:1928482] |
| Ensembl ID | ENSMUSG00000027763 |
| Bio databases IDs | |
| Aliases | muscleblind like splicing factor 1 |
| Synonyms | EXP, MBNL, mKIAA0428, muscleblind-like splicing regulator 1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mbnl1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc finger
- CCCH-type zinc finger
- nucleic acid binding
- double-stranded RNA binding
- Zinc finger C-x8-C-x5-C-x3-H type (and similar)
- protein binding
- zinc finger domain
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- depressive disorder
- neoplasia
- glioblastoma
- prostate cancer
- breast cancer
- gastric epithelial cancer
- uterine cancer
- organismal death
- gastric adenocarcinoma
- prostatic carcinoma
role in cell
- expression in
- migration
- invasion by
- differentiation
- colony formation by
- abnormal morphology
- alternative splicing by
- phagocytosis by
- tumorsphere formation by
- upregulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nuclear foci
- nucleoplasm
- stress granule
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mbnl1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic limb morphogenesis
- RNA splicing
- in utero embryonic development
- regulation of RNA splicing
- myoblast differentiation
- nervous system development
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasmic stress granule
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- double-stranded RNA binding
- metal ion binding
- regulatory region RNA binding